Incidental Mutation 'IGL00969:Zc3h14'
ID |
28780 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zc3h14
|
Ensembl Gene |
ENSMUSG00000021012 |
Gene Name |
zinc finger CCCH type containing 14 |
Synonyms |
2700069A02Rik, 1010001P15Rik, 1700016A15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00969
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
98713223-98754012 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98725102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 255
(S255T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105732
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057000]
[ENSMUST00000110104]
[ENSMUST00000110105]
[ENSMUST00000221532]
[ENSMUST00000223083]
|
AlphaFold |
Q8BJ05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057000
AA Change: S255T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000055879 Gene: ENSMUSG00000021012 AA Change: S255T
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ZnF_C3H1
|
440 |
463 |
7.16e-1 |
SMART |
ZnF_C3H1
|
465 |
484 |
5.27e1 |
SMART |
ZnF_C3H1
|
520 |
542 |
5.55e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110104
AA Change: S255T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105731 Gene: ENSMUSG00000021012 AA Change: S255T
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ZnF_C3H1
|
465 |
488 |
7.16e-1 |
SMART |
ZnF_C3H1
|
490 |
509 |
5.27e1 |
SMART |
ZnF_C3H1
|
545 |
567 |
5.55e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110105
AA Change: S255T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105732 Gene: ENSMUSG00000021012 AA Change: S255T
Domain | Start | End | E-Value | Type |
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
low complexity region
|
313 |
320 |
N/A |
INTRINSIC |
ZnF_C3H1
|
596 |
619 |
7.16e-1 |
SMART |
ZnF_C3H1
|
621 |
640 |
5.27e1 |
SMART |
ZnF_C3H1
|
676 |
698 |
5.55e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221576
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222461
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222913
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223083
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223451
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016] PHENOTYPE: Homozygous knockout results in impaired spatial working memory, enlarged anterior lateral ventricles in the brain, small testes and reduced litter size. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
G |
A |
5: 4,051,550 (GRCm39) |
S1439N |
probably benign |
Het |
Bcl9l |
A |
G |
9: 44,419,539 (GRCm39) |
T1069A |
possibly damaging |
Het |
Btaf1 |
T |
G |
19: 36,988,652 (GRCm39) |
|
probably benign |
Het |
Cdc40 |
A |
T |
10: 40,719,124 (GRCm39) |
V335E |
probably damaging |
Het |
Cenpj |
A |
T |
14: 56,802,420 (GRCm39) |
N48K |
possibly damaging |
Het |
Cfh |
A |
G |
1: 140,016,420 (GRCm39) |
W635R |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,714,719 (GRCm39) |
S633P |
possibly damaging |
Het |
Cnot6 |
T |
C |
11: 49,575,947 (GRCm39) |
M176V |
probably benign |
Het |
Cryz |
G |
T |
3: 154,324,163 (GRCm39) |
E51* |
probably null |
Het |
Dcc |
A |
G |
18: 71,589,954 (GRCm39) |
Y681H |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,045,792 (GRCm39) |
N2412K |
probably benign |
Het |
Gpr137b |
C |
T |
13: 13,539,650 (GRCm39) |
W258* |
probably null |
Het |
Hnf1b |
A |
G |
11: 83,773,526 (GRCm39) |
T242A |
probably benign |
Het |
Hsd11b1 |
A |
T |
1: 192,905,952 (GRCm39) |
C213* |
probably null |
Het |
Igsf11 |
A |
T |
16: 38,829,279 (GRCm39) |
T117S |
probably damaging |
Het |
Inpp5b |
T |
C |
4: 124,677,787 (GRCm39) |
Y416H |
probably damaging |
Het |
Kcnq3 |
C |
A |
15: 65,876,575 (GRCm39) |
V523F |
probably damaging |
Het |
Krtap9-5 |
T |
C |
11: 99,839,291 (GRCm39) |
|
probably benign |
Het |
Lrig3 |
T |
C |
10: 125,832,984 (GRCm39) |
L286S |
probably damaging |
Het |
Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
Nup58 |
A |
G |
14: 60,466,365 (GRCm39) |
|
probably benign |
Het |
Or51b6b |
T |
A |
7: 103,310,274 (GRCm39) |
Y61F |
probably damaging |
Het |
Or5b94 |
T |
C |
19: 12,651,605 (GRCm39) |
L12P |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,847,994 (GRCm39) |
I92T |
possibly damaging |
Het |
Or8k16 |
G |
A |
2: 85,520,007 (GRCm39) |
C78Y |
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,719,877 (GRCm39) |
D443G |
possibly damaging |
Het |
Ttc28 |
A |
G |
5: 111,373,606 (GRCm39) |
D1014G |
probably benign |
Het |
Tubgcp5 |
T |
A |
7: 55,456,343 (GRCm39) |
S312T |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,211,410 (GRCm39) |
D473G |
probably benign |
Het |
Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
Wwc2 |
G |
A |
8: 48,299,193 (GRCm39) |
R1039W |
unknown |
Het |
Zfp369 |
T |
C |
13: 65,445,074 (GRCm39) |
V739A |
probably benign |
Het |
Zfyve21 |
A |
G |
12: 111,791,368 (GRCm39) |
|
probably benign |
Het |
Znhit6 |
A |
G |
3: 145,300,351 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zc3h14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Zc3h14
|
APN |
12 |
98,713,783 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00946:Zc3h14
|
APN |
12 |
98,726,142 (GRCm39) |
splice site |
probably benign |
|
IGL01626:Zc3h14
|
APN |
12 |
98,745,445 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL01891:Zc3h14
|
APN |
12 |
98,725,206 (GRCm39) |
unclassified |
probably benign |
|
IGL02119:Zc3h14
|
APN |
12 |
98,730,154 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02484:Zc3h14
|
APN |
12 |
98,740,560 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02744:Zc3h14
|
APN |
12 |
98,751,234 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02894:Zc3h14
|
APN |
12 |
98,725,202 (GRCm39) |
critical splice donor site |
probably null |
|
R0408:Zc3h14
|
UTSW |
12 |
98,730,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0739:Zc3h14
|
UTSW |
12 |
98,723,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R0865:Zc3h14
|
UTSW |
12 |
98,745,528 (GRCm39) |
critical splice donor site |
probably null |
|
R0926:Zc3h14
|
UTSW |
12 |
98,724,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1530:Zc3h14
|
UTSW |
12 |
98,751,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R1735:Zc3h14
|
UTSW |
12 |
98,724,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1743:Zc3h14
|
UTSW |
12 |
98,745,448 (GRCm39) |
missense |
probably benign |
0.04 |
R1848:Zc3h14
|
UTSW |
12 |
98,719,091 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1851:Zc3h14
|
UTSW |
12 |
98,726,613 (GRCm39) |
nonsense |
probably null |
|
R1978:Zc3h14
|
UTSW |
12 |
98,730,181 (GRCm39) |
missense |
probably damaging |
0.97 |
R2011:Zc3h14
|
UTSW |
12 |
98,746,527 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2198:Zc3h14
|
UTSW |
12 |
98,719,069 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2198:Zc3h14
|
UTSW |
12 |
98,719,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R2263:Zc3h14
|
UTSW |
12 |
98,724,773 (GRCm39) |
missense |
probably benign |
0.32 |
R3762:Zc3h14
|
UTSW |
12 |
98,724,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R4210:Zc3h14
|
UTSW |
12 |
98,751,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4353:Zc3h14
|
UTSW |
12 |
98,730,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4360:Zc3h14
|
UTSW |
12 |
98,746,456 (GRCm39) |
missense |
probably benign |
0.09 |
R4814:Zc3h14
|
UTSW |
12 |
98,719,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4815:Zc3h14
|
UTSW |
12 |
98,719,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Zc3h14
|
UTSW |
12 |
98,719,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Zc3h14
|
UTSW |
12 |
98,726,083 (GRCm39) |
missense |
probably benign |
|
R5077:Zc3h14
|
UTSW |
12 |
98,723,465 (GRCm39) |
critical splice donor site |
probably null |
|
R5431:Zc3h14
|
UTSW |
12 |
98,746,324 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5783:Zc3h14
|
UTSW |
12 |
98,723,434 (GRCm39) |
missense |
probably damaging |
0.99 |
R5850:Zc3h14
|
UTSW |
12 |
98,745,414 (GRCm39) |
missense |
probably damaging |
0.97 |
R6034:Zc3h14
|
UTSW |
12 |
98,737,632 (GRCm39) |
missense |
probably benign |
0.01 |
R6034:Zc3h14
|
UTSW |
12 |
98,737,632 (GRCm39) |
missense |
probably benign |
0.01 |
R6291:Zc3h14
|
UTSW |
12 |
98,726,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R6338:Zc3h14
|
UTSW |
12 |
98,724,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6595:Zc3h14
|
UTSW |
12 |
98,723,285 (GRCm39) |
missense |
probably damaging |
0.98 |
R6737:Zc3h14
|
UTSW |
12 |
98,751,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R6932:Zc3h14
|
UTSW |
12 |
98,737,336 (GRCm39) |
intron |
probably benign |
|
R7074:Zc3h14
|
UTSW |
12 |
98,724,859 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7204:Zc3h14
|
UTSW |
12 |
98,737,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R7237:Zc3h14
|
UTSW |
12 |
98,746,408 (GRCm39) |
missense |
probably benign |
0.34 |
R7267:Zc3h14
|
UTSW |
12 |
98,751,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R8753:Zc3h14
|
UTSW |
12 |
98,724,831 (GRCm39) |
missense |
probably benign |
0.12 |
R9169:Zc3h14
|
UTSW |
12 |
98,745,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R9610:Zc3h14
|
UTSW |
12 |
98,737,663 (GRCm39) |
missense |
possibly damaging |
0.92 |
RF020:Zc3h14
|
UTSW |
12 |
98,746,541 (GRCm39) |
critical splice donor site |
probably null |
|
RF024:Zc3h14
|
UTSW |
12 |
98,725,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-04-17 |